Медицинская библиотека · Neuro-oncology · 2026

Primary mismatch repair deficient glioma, IDH-wildtype and H3-wildtype: A giant cell tumor with potential for long-term survival occurring at all ages.

Suwala Abigail K, Friedel Dennis, Hinz Felix E, Mahlknecht Philipp D, Schinkewitsch Sophia, Rieder Mathias, Fernandez Nicholas R, Stengs Lucie, Chang Yuan, Ringel Amit, Haag Daniel, Pusch Stefan, Stichel Damian, Schrimpf Daniel, Kramm Christof M, Wesseling Pieter, Schweizer Leonille, Harter Patrick, Hartmann Christian, Capper David, Snuderl Matija, Boldt Henning, Brandner Sebastian, Dohmen Hildegard, Acker Till, Schittenhelm Jens, Hasselblatt Martin, Agardy Dennis, Bunse Theresa, Bunse Lukas, Korshunov Andrey, Herold-Mende Christel, Etminan Nima, Wick Wolfgang, Platten Michael, Das Anirban, Tabori Uri, Blattner-Johnson Mirjam, Sill Martin, Sturm Dominik, Pfister Stefan M, Jones David T W, Sahm Felix, von Deimling Andreas, Reuss David E

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Аннотация

BACKGROUND

Replication repair deficiency is associated with increased risk of developing malignant gliomas. The aim of this study was to investigate primary mismatch repair deficient gliomas (PMMRDGs), a group of IDH-wildtype and H3-wildtype gliomas that is enriched among patients with CMMRD and Lynch syndrome.

METHODS

We investigated how PMMRDGs differ from other gliomas with respect to DNA methylation profile, genomic alterations, histopathology, and clinical outcomes.

RESULTS

PMMRDGs occur in pediatric, adolescents and the elderly, falling in two related methylation clusters and are characterized by a high frequency of replication repair deficiency. Histology showed multinucleated giant cells, and immunohistochemistry demonstrated loss of MMR protein expression. Survival analysis revealed long-term survival in patients with high mutational burden (>50 mut/Mb) and an intact chromosome 9p region, which was validated in an independent reference cohort.

CONCLUSIONS

Overall, our findings indicate that PMMRDGs represent a distinct type of IDH-wildtype gliomas with potential for long-term survival likely driven by immune activation.

Для цитирования: Suwala Abigail K, Friedel Dennis, Hinz Felix E, Mahlknecht Philipp D, Schinkewitsch Sophia, Rieder Mathias, Fernandez Nicholas R, Stengs Lucie, Chang Yuan, Ringel Amit, Haag Daniel, Pusch Stefan, Stichel Damian, Schrimpf Daniel, Kramm Christof M, Wesseling Pieter, Schweizer Leonille, Harter Patrick, Hartmann Christian, Capper David, Snuderl Matija, Boldt Henning, Brandner Sebastian, Dohmen Hildegard, Acker Till, Schittenhelm Jens, Hasselblatt Martin, Agardy Dennis, Bunse Theresa, Bunse Lukas, Korshunov Andrey, Herold-Mende Christel, Etminan Nima, Wick Wolfgang, Platten Michael, Das Anirban, Tabori Uri, Blattner-Johnson Mirjam, Sill Martin, Sturm Dominik, Pfister Stefan M, Jones David T W, Sahm Felix, von Deimling Andreas, Reuss David E. Primary mismatch repair deficient glioma, IDH-wildtype and H3-wildtype: A giant cell tumor with potential for long-term survival occurring at all ages.. Neuro-oncology. 2026. DOI: 10.1093/neuonc/noag132.

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